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Maternal Uniparental Disomy for Chromosome 14

Published online by Cambridge University Press:  01 August 2014

D.A. Coviello ,
E. Panucci ,
M.M. Mantero ,
C. Perfumo ,
M. Guelfi ,
C. Borrone  and
F. Dagna Bricarelli
D.A. Coviello*
Affiliation:
Istituto di Biologia e Genetica (IBIG), Università di Genova, Italy
E. Panucci
Affiliation:
Istituto di Biologia e Genetica (IBIG), Università di Genova, Italy
M.M. Mantero
Affiliation:
Centro di Genetica Umana, E.O. Ospedali Galliera, Genova, Italy
C. Perfumo
Affiliation:
Centro di Genetica Umana, E.O. Ospedali Galliera, Genova, Italy
M. Guelfi
Affiliation:
Istituto di Clinica Ortopedica, Università di Genova, Italy
C. Borrone
Affiliation:
Divisione di Pediatria II, Istituto G. Gaslini, Genova, Italia
F. Dagna Bricarelli
Affiliation:
Centro di Genetica Umana, E.O. Ospedali Galliera, Genova, Italy
*
Istituto di Biologia e Genetica (IBIG), Università di Genova, Italy

Abstract

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A girl carrying a de novo balanced 13-14 robertsonian translocation showed a clinical phenotype with severe hypotonia, hyperextensible joints, frontal bossing, asymmetric face, no mental retardation, severe scoliosis and motor delay. In situ hybridization analysis on chromosome spreads revealed the presence of the two centromeres in the rearranged chromosomes. Molecular analysis on genomic DNA showed the presence in the proposita of two chromosomes 14 of maternal origin and no chromosome 14 from the father indicating a maternal monocentric uniparental disomy for chromosome 14 (mUPD14). Our patient shows several similarities with other reported cases of mUPD14, suggesting imprinting of a region(s) of chromosome 14 and defining a possible mUPD14 Syndrome.

Keywords

Uniparental disomyChromosome 14Robertsonian translocationImprinting
Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 45 , Issue 1-2 , April 1996 , pp. 169 - 172
Copyright
Copyright © The International Society for Twin Studies 1996

References

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